Carbone Lab

Oregon Health & Science University

INTERNAL MEDICINE/MEDICINE

Portland · United States

NIH-funded
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NIH R01 · 2025

Investigating the role of human-specific 3D genome conformation in the context of brain development and disease

PROJECT SUMMARY The human brain has undergone many specializations (e.g., increased synapse density) resulting in unmatched cognitive complexity, as well as increased vulnerability to neurodevelopmental disorders, such as autism. Differences in gene expression are responsible for most human-specific brain specializations, and comparative (epi)genomics strategies are remarkably powerful in identifying the mechanisms underlying these differences. Spatial genome conformation, particularly organization of topologically associated domains (TADs), is a very promising candidate mechanism for driving human-specific gene expression patterns in the brain but remains understudied in this context. In…

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